Strong mindsDaniel is living a normal life, despite a brain tumor. CHOP researchers work hard to keep it that way.

Doctors first thought something was wrong with his eyes. Daniel Fonseca-Avalos, then 4, had failed to read enough of the letters on the eye chart at school, but such things are not uncommon. An ophthalmologist thought it was a lazy eye and gave Daniel a patch. But weeks later, the problem had only worsened. He got an MRI.

“That’s how we found out,” says his mother, Evangelina, five years later. “I think I’m still in shock.”

Daniel, now 9, had a brain tumor. A biopsy at CHOP revealed it to be a low-grade astrocytoma. This type of tumor is not cancerous, and so many children can have them removed and go on to live normal lives. However, in Daniel’s case, the tumor’s location in his optic pathway makes it inoperable, and radiation would be too damaging to his growing brain.

His oncology team at CHOP elected to try chemotherapy. After the first regimen didn’t work — the tumor actually grew — a second regimen was able to stabilize it. “We don’t always see these tumors shrink,” says Angela Waanders, MD, MPH, his primary neuro-oncologist. “The goal is to prevent growth. In that way, it’s almost like managing a chronic disease.”

Daniel was able to stop treatment for about a year, but the tumor began to grow again. That’s when Waanders suggested Daniel enroll in a clinical trial available only at CHOP and a handful of medical centers nationwide. Unlike traditional chemotherapy, which targets rapidly dividing cells, Daniel’s medication aims to disrupt a specific biological process driving his tumor’s growth.

Such trials are only possible because new research, often looking at tumor genetics, is illuminating how astrocytomas grow. The Fonseca-Avalos family chose CHOP because it was close to their home in Philadelphia. What they didn’t know at the time was that Waanders, along with CHOP brain tumor researcher Adam Resnick, Ph.D., and Chief of Neurosurgery Phillip “Jay” Storm, MD, are leading researchers in exactly the type of brain tumor that Daniel has. Their pioneering work together identified a gene responsible for low-grade astrocytomas and continues to unlock the mysteries of how childhood brain tumors arise.

In 2011, Resnick and Storm, along with Tom Curran, PhD, FRS, deputy scientific director of the CHOP Research Institute, and Peter Phillips, M.D., director of the Pediatric Neuro-Oncology Program, organized the Children’s Brain Tumor Tissue Consortium (CBTTC), which solves one of the key problems in studying pediatric brain tumors: their rarity. There are many types of pediatric brain tumors, but with only 3,000 total cases each year diagnosed in the United States, it has been hard for researchers to get enough tissue samples of any given type to make the important breakthroughs. With the CBTTC, all five member institutions agree to collect tissue and blood samples from families willing to participate in research. They send those samples to CHOP, where the samples undergo preservation and genetic analysis, forming a rich biorepository and database to which researchers share access. To date, there are samples from more than 1,200 individuals available for study.

The CBTTC is entirely funded by philanthropy. In fact, much of the brain tumor research at CHOP also benefits from the tireless fundraising efforts of a committed group of donors.

“These are extremely dedicated families and nonprofits who have come together and made it their mission to grow the support for brain tumor research,” says Resnick.

Two of the organizations — the Kortney Rose Foundation and the Children’s Brain Tumor Foundation — recently crossed the $1 million mark in their giving to CHOP. They are two among an extraordinary group too numerous to mention that hold fundraising events year after year, often in honor of a loved one.

“A lot of our patients do really well, but what keeps me in the lab are the number of times I have to say to a family, ‘We have nothing more to offer’ or ‘We don’t have an effective treatment for your tumor type,’” says Waanders.

Thanks to research advances made in the last five years, she has been able to give better news to the Fonseca-Avalos family. Because of his experimental medication, Daniel’s tumor has stopped growing. He simply takes a pill each night before bed.

Daniel has significant vision loss and wears special glasses to protect his eyes from objects he might not be able to see coming. But in so many ways, he’s got a normal life. He loves video games and plays outside with his friends like a typical kid.

Evangelina describes her son in a single word: strong. Through shots, blood tests, brain scans or surgery, Daniel never makes a fuss or complains. “He has brought our family together and made each of us strong,” she says. “If he can suffer through this and still be strong, we can be tough, too.”